Background Mitochondrial diseases (MDs) are systemic disorders that can affect multiple organs. Renal manifestations, including renal tubular acidosis, are common because kidneys are particularly vulnerable to energy deprivation. Treatment of MDs is often complex and electrolyte replacement can be difficult especially in pediatric patients, because large and repeated amounts of oral supplements are needed but are not well tolerated.Case presentation We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of serum bicarbonates despite a progressive incrementation of oral bicarbonates. Furthermore, as a result to the ingestion of large amounts of alkali, the girl developed an aversion to oral supplementation. After positioning a percutaneous gastrostomy (PEG) and starting enteral administration of bicarbonates (with daily boluses and continuous nocturnal infusion), she finally obtained an adequate electrolyte control, with a significant increase in her quality of life.Conclusions In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved patients’ quality of life, particularly in pediatric settings, where compliance to oral therapy is often lacking due to the large and repeated amounts of unpalatable bicarbonates solutions required.
Oxygen supplementation represents a fundamental therapy in several clinical conditions, both acute and chronic. Starting from some concepts of respiratory physiopathology, this paper discusses the approach to a child with respiratory distress and respiratory failure, focuses on the main signs and symptoms of hypoxia, hypercapnia and increased work of breathing and explains the methods to assess the severity of the clinical status, highlighting the relevance of the SpO2/FiO2 ratio (peripheral oxygen saturation/inspiratory oxygen fraction). Furthermore, this work aims to summarize the main methods of oxygen delivery, their relative indications, by underlining advantages and possible complications such as blow-by oxygen, low flow nasal cannula and face mask (simple, Venturi, rebreathing and non-rebreathing). The focus is on two new oxygen delivery devices, High Flow Nasal Cannula (HFNC) and Continuous Positive Airway Pressure (CPAP), which in recent years have more and more been used not only in emergency units but also in paediatric wards.
Coeliac disease is an immune-mediated systemic disease that affects 1% of the population and it is caused by the ingestion of gluten in genetically predisposed subjects. Clinical manifestations and intestinal damage completely resolve once gluten is excluded from the diet, therefore the precocity of diagnosis is of primary relevance. Although considerable progress has been made in recent years, the wide spectrum of clinical manifestations still causes diagnostic delay. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) has recently published an update of the guidelines providing tools to optimize diagnostic skills. This work aims to summarize the main topics of the new guidelines through illustrative clinical cases.
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